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Fanconi Anemia
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Differential diagnoses for FA include hereditary breast and ovarian cancer (heterozygous pathogenic variants in FANCD1/BRCA2, FANCJ/BRIP1, and FANCN/PALB2), pancreatic cancer (heterozygous pathogenic variants in FANCN/PALB2), xeroderma pigmentosum (FANCN), Cockayne syndrome (FANCN), XFE progeroid syndrome (FANCN), Bloom syndrome (spontaneous chromosome breakage independent of diepoxybutane), ataxia-telangiectasia (spontaneous chromosome breakage independent of diepoxybutane), Nijmegen breakage syndrome (NBS; short stature, progressive microcephaly with loss of cognitive skills, premature ovarian failure in females, recurrent sinopulmonary infections, and an increased risk for lymphoma; increased chromosome breakage with MMC; autosomal recessive disorder due to NBN pathogenic variants), Seckel syndrome (growth retardation, microcephaly with intellectual disability, characteristic “bird-headed” facial appearance, pancytopenia or AML, increased chromosome breakage with DNA crosslinking agents such as MMC and DEB, autosomal recessive disorder due to biallelic pathogenic variants in ATR, NIN, ATRIP, RBBP8, CEP152, CENPJ, and CEP63), neurofibromatosis type 1 (café-au-lait macules), TAR syndrome (thrombocytopenia with absent radii), dyskeratosis congenita, Diamond−Blackfan anemia, Shwachman−Diamond syndrome, severe congenital neutropenia, amegakaryocytic thrombocytopenia, Baller−Gerold syndrome, Rothmund−Thomson syndrome, Roberts syndrome, Warsaw breakage syndrome, DK-phocomelia, VACTERL hydrocephalus syndrome (radial ray defects), and Wiskott−Aldrich syndrome [1,2,28–30].
Emerging strategies to target the dysfunctional cohesin complex in cancer
Published in Expert Opinion on Therapeutic Targets, 2019
Konstantinos Mintzas, Michael Heuser
A series of developmental disorders, termed cohesinopathies, have been attributed to mutations in cohesin genes or their regulators. The Cornelia de Lange syndrome is a clinically heterogeneous disease typically associated with microcephaly, short stature, hypertrichosis, bone malformations and mental retardation with mutations described in the regulatory protein NIPBL and core proteins SMC1A, SMC3, RAD21 and STAG1 [23–27]. The pathology of the disease has been suggested to be linked to aberrant gene regulation attributed to dysfunctional cohesin. Roberts Syndrome, characterized by limb and facial abnormalities, and Warsaw breakage syndrome, characterized by intellectual disability, impaired growth, and heart malformations, are two other cohesinopathies attributed to mutations on the regulatory proteins ESCO2 and DDX11, respectively[28].